Genetic Disorders in Orthopaedics

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Questions and Answers

What is a common inheritance pattern for Marfan's syndrome?

It is acquired through environmental factors.

It only occurs in individuals with no family history.

It can be inherited from family members. (correct)

It is caused by a viral infection.

Which symptom is NOT typically associated with Marfan's syndrome?

Long digits

Bone deformities in early infancy (correct)

Spondylolesthesis

Tall stature

What condition is characterized as brittle bone disease?

Scoliosis

Marfan's syndrome

Osteogenesis Imperfecta (OI) (correct)

Spondylolesthesis

In Osteogenesis Imperfecta, what is the underlying issue that leads to its symptoms?

Defect in type I collagen synthesis Signup and view all the answers

How does Osteogenesis Imperfecta manifest in severe cases during infancy?

Fractures can occur in the womb Signup and view all the answers

Which of the following is a characteristic feature of Marfan's syndrome?

Involvement of cardiovascular system Signup and view all the answers

What is one of the common clinical features associated with Osteogenesis Imperfecta?

Frequent fractures during infancy Signup and view all the answers

What condition might lead to deteriorating effects on other disorders such as scoliosis?

Connective tissue disorders Signup and view all the answers

What is a characteristic of Spondyloepiphysial dysplasia (SED)?

Normal facial features Signup and view all the answers

Which developmental feature is common in infants with SED congenita?

Short limbs Signup and view all the answers

What spinal condition is often observed in older children with SED?

Kyphosis Signup and view all the answers

Hereditary multiple exostosis primarily affects which part of the skeleton?

Long bone metaphyses Signup and view all the answers

What is the growth behavior of exostoses in hereditary multiple exostosis?

They grow continuously Signup and view all the answers

What skeletal change is associated with adult SED sufferers?

Severe joint incongruity Signup and view all the answers

Which of the following qualities is least likely associated with SED?

Normal limb proportions Signup and view all the answers

How do SED patients typically stand?

With flexed hips Signup and view all the answers

Which category of genetic disorders specifically involves issues with cartilage and bone growth?

Genetic disorders of cartilage and bone growth Signup and view all the answers

What is the classification of osteogenesis imperfecta?

A genetic disorder affecting bone strength Signup and view all the answers

Which of the following is a characteristic of dysplasias with predominantly epiphyseal changes?

Familial disorder with abnormal long bone epiphysis development Signup and view all the answers

Which disorder is specifically identified as a chromosome disorder?

Down's syndrome Signup and view all the answers

Which aspect does not describe genetic disorders of cartilage and bone growth?

Exclusively affects adults Signup and view all the answers

What is a key feature of generalized joint laxity?

It affects mobility and stability of joints Signup and view all the answers

Which of the following correctly describes enzyme defects in the context of genetic disorders?

They can lead to muscle and nerve damage Signup and view all the answers

What is a common outcome of dysplasia with epiphyseal changes?

Underdeveloped growth or deformity Signup and view all the answers

What is the overall prevalence of congenital loss of the limb (limb deficiency) at birth?

7.9/10,000 live births Signup and view all the answers

Which of the following is NOT listed as a possible cause of localized malformations?

Genetic mutation Signup and view all the answers

In terms of limb deficiencies, which type is more common?

Longitudinal deficiencies Signup and view all the answers

What characteristic defines a transverse limb deficiency?

Absence of all elements beyond a certain level Signup and view all the answers

Which vitamin is known to cause hypoplastic or absent limbs in congenital limb deficiency?

Vitamin A Signup and view all the answers

How are localized malformations typically discovered?

Incidentally Signup and view all the answers

What primarily causes most limb deficiencies?

Primary growth inhibition of normal embryonic tissues Signup and view all the answers

Which of the following options accurately describes localized malformations?

They may involve vertebrae or limbs Signup and view all the answers

What is the most common deficiency of the upper limb?

Radial ray deficiency Signup and view all the answers

Which type of ulnar deficiency is characterized by a stable elbow joint?

Type 1 Signup and view all the answers

Which of the following is NOT commonly associated with limb deficiencies?

Absence of calcaneus Signup and view all the answers

In ulnar deficiency, what is a characteristic feature of Type 2?

There is an abnormal connection to the wrist Signup and view all the answers

What percentage of limb deficiency cases is associated with congenital disorders?

About two thirds Signup and view all the answers

Which of the following findings is commonly associated with radial deficiency?

Short forearm Signup and view all the answers

What condition is described by a child missing an ulna with an unstable elbow?

Type 3 ulnar deficiency Signup and view all the answers

Which of the following statements is true regarding bilateral limb deficiencies?

They occur in ½ of radial deficiency cases Signup and view all the answers

Study Notes

Learning Outcomes

Recognizing genetic disorders and malformations is essential in orthopaedics.

Genetic Disorders: Overview

Chondro-osteodystrophies include genetic disorders affecting cartilage and bone growth.
Dysplasias are categorized based on the specific areas affected:
- Epiphyseal changes
- Epiphyseal and metaphyseal changes
- Diaphyseal changes

Key Genetic Disorders

Osteogenesis Imperfecta (OI), known as brittle bone disease, is characterized by fragile bones.
Generalized joint laxity is another common genetic disorder.
Enzyme defects and chromosome disorders, such as Down's syndrome, are significant contributors to genetic issues.

Dysplasia: Epiphyseal Changes

Multiple Epiphyseal Dysplasia (MED) varies from mild to life-threatening conditions with widespread skeletal involvement.
Long bone epiphyses develop abnormally, often resulting in pain and deformity, though facial and spinal structures remain normal.
Spondyloepiphysial Dysplasia (SED) features vertebral anomalies, irregularities, and physical deformities that evolve over time.

Spondyloepiphysial Dysplasia (SED)

In infants, SED presents as short limbs and a very short neck.
Older children may display dorsal kyphosis and barrel-shaped chests.
Adults with SED might experience severe scoliosis and marked lumbar lordosis.

Hereditary Multiple Exostosis

The most common form of dysplasia, resulting in multiple exostoses appearing at long bone metaphyses and apophyses.
Each exostosis is cartilage-covered and continues to grow, potentially leading to deformities.

Connective Tissue Disorders

Marfan's syndrome affects bones, joints, ligaments, eyes, and the cardiovascular system, characterized by tall stature and long digits.
Osteogenesis Imperfecta (OI) is a common inherited disorder affecting collagen synthesis, leading to fragile bones and deformities from early childhood.

Congenital Malformations

Localized malformations can affect vertebrae or limbs, often discovered incidentally and mainly considered idiopathic.
Maternal infections or drug exposures may also contribute to these anomalies.

Limb Deficiencies: Types

Prevalence: 7.9 per 10,000 live births, often linked to primary growth inhibition of embryonic tissues.
Longitudinal deficiencies (more common) involve specific structural abnormalities, while transverse deficiencies resemble amputation stumps.

Radial and Ulnar Deficiencies

Radial deficiencies result in a shorter forearm and underdeveloped hand; approximately 50% of cases are bilateral.
Ulnar deficiencies range from mild (Type 1) to severe (Type 4), affecting the structure and stability of the arm.

Conclusion

Understanding these genetic disorders and malformations is vital for effective treatment and management in orthopaedics.

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Description

This quiz focuses on genetic disorders and malformations within the field of orthopaedics. Students will learn to recognize and analyze various genetic conditions impacting musculoskeletal health. This knowledge is essential for understanding patient care and treatment in orthopaedic practice.